ClinVar Miner

List of variants in gene GH-LCR, SCN4A studied for Paramyotonia congenita of Von Eulenburg

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 176
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.*710T>C rs2532111 0.67728
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_000334.4(SCN4A):c.*1427T>C rs2727278 0.18159
NM_000334.4(SCN4A):c.*1271T>A rs2727277 0.18122
NM_000334.4(SCN4A):c.*22A>G rs2228995 0.17899
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_000334.4(SCN4A):c.*563G>A rs2532112 0.08626
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_000334.4(SCN4A):c.*1737A>G rs16947276 0.06978
NM_000334.4(SCN4A):c.*1357A>G rs113012761 0.05971
NM_000334.4(SCN4A):c.*122G>A rs2228997 0.05774
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_000334.4(SCN4A):c.*1611A>G rs16947280 0.02126
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_000334.4(SCN4A):c.*1368G>C rs113385942 0.01686
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_000334.4(SCN4A):c.*332C>T rs77962116 0.01507
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000334.4(SCN4A):c.*1989C>T rs77615646 0.00968
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_000334.4(SCN4A):c.*1088A>G rs77725962 0.00759
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710 0.00716
NM_000334.4(SCN4A):c.*1215G>A rs112758825 0.00696
NM_000334.4(SCN4A):c.*129G>T rs140026321 0.00401
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000334.4(SCN4A):c.*1324T>C rs544883913 0.00256
NM_000334.4(SCN4A):c.*1828A>G rs79003915 0.00233
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_000334.4(SCN4A):c.*552A>G rs533628539 0.00124
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_000334.4(SCN4A):c.*2170G>A rs569759069 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000334.4(SCN4A):c.*2150C>A rs182791237 0.00105
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_000334.4(SCN4A):c.*2072G>A rs192346663 0.00099
NM_000334.4(SCN4A):c.*64G>A rs753971558 0.00080
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988 0.00051
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000334.4(SCN4A):c.*2085C>G rs756262968 0.00042
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) rs200354336 0.00036
NM_000334.4(SCN4A):c.*1069G>A rs368616841 0.00035
NM_000334.4(SCN4A):c.*780G>T rs562146322 0.00034
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110 0.00026
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000334.4(SCN4A):c.*755G>A rs886053243 0.00025
NM_000334.4(SCN4A):c.*873G>C rs540759411 0.00024
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.*304G>A rs545908155 0.00017
NM_000334.4(SCN4A):c.*86G>T rs566876110 0.00017
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913 0.00017
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000334.4(SCN4A):c.*1887A>G rs749866237 0.00012
NM_000334.4(SCN4A):c.*1108C>G rs773016576 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000334.4(SCN4A):c.*1253G>A rs886053240 0.00010
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.*1916C>T rs139537251 0.00009
NM_000334.4(SCN4A):c.*630T>C rs779847568 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 0.00009
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=) rs538173069 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) rs375375167 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.*1313G>A rs761821168 0.00007
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=) rs201036204 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000334.4(SCN4A):c.*1057C>T rs886053242 0.00006
NM_000334.4(SCN4A):c.*2211C>T rs886053237 0.00006
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000334.4(SCN4A):c.*1572T>G rs771871843 0.00005
NM_000334.4(SCN4A):c.*754T>C rs574113483 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000334.4(SCN4A):c.*1172G>A rs540304010 0.00004
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) rs886053247 0.00004
NM_000334.4(SCN4A):c.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) rs752523459 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_000334.4(SCN4A):c.*394A>C rs886053244 0.00003
NM_000334.4(SCN4A):c.*670T>G rs148552329 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.4201G>A (p.Val1401Met) rs572380012 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro) rs752396330 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.*1218G>A rs908902727 0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.2280G>T (p.Gly760=) rs753779301 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn) rs780268341 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551 0.00001
NM_000334.4(SCN4A):c.3904A>C (p.Lys1302Gln) rs1555601285 0.00001
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) rs779470034 0.00001
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852 0.00001
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524 0.00001
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899 0.00001
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430 0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454 0.00001
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) rs749251685 0.00001
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.*1205C>G rs886053241
NM_000334.4(SCN4A):c.*1345A>G rs1908450197
NM_000334.4(SCN4A):c.*1384ATATATGTGT[3] rs112489358
NM_000334.4(SCN4A):c.*1497C>T rs1908443762
NM_000334.4(SCN4A):c.*1505G>T rs1908443410
NM_000334.4(SCN4A):c.*1599A>G rs1908440330
NM_000334.4(SCN4A):c.*1679TG[7] rs66908473
NM_000334.4(SCN4A):c.*1875A>G rs886053239
NM_000334.4(SCN4A):c.*1890C>A rs886053238
NM_000334.4(SCN4A):c.*203T>G rs1908484940
NM_000334.4(SCN4A):c.*2169C>G rs191754378
NM_000334.4(SCN4A):c.*315C>T rs886053245
NM_000334.4(SCN4A):c.*981G>A rs144800677
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe) rs80338955
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2108T>C (p.Leu703Pro) rs2144793242
NM_000334.4(SCN4A):c.2168G>T (p.Gly723Val)
NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu) rs886053248
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2612G>A (p.Gly871Glu) rs1908916464
NM_000334.4(SCN4A):c.2905G>A (p.Asp969Asn) rs2144784455
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) rs749973882
NM_000334.4(SCN4A):c.3249A>G (p.Lys1083=) rs1597971116
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His) rs1908682760
NM_000334.4(SCN4A):c.3703C>T (p.Leu1235Phe)
NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys) rs886053246
NM_000334.4(SCN4A):c.3891C>A (p.Asn1297Lys) rs121908560
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn) rs1908587972
NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg) rs121908550
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu) rs121908554
NM_000334.4(SCN4A):c.4369C>T (p.Arg1457Cys) rs1473372899
NM_000334.4(SCN4A):c.4418T>C (p.Phe1473Ser)
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) rs121908559
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
NM_000334.4(SCN4A):c.4784C>G (p.Ala1595Gly)
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly) rs748434431
NM_000334.4(SCN4A):c.5372G>T (p.Ser1791Ile) rs1908500124

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.